PanelApp (test)
  1. Genes and Genomic Entities
  2. NPRL3:Ensemblv90

NPRL3:Ensemblv90

NPR3 like, GATOR1 complex subunit
OMIM: 600928, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green NPRL3 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.48

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3 (MIM#617118)

    Green NPRL3 in Mendeliome


    Version 1.3802

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3- MIM#617118

    Green NPRL3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3- MIM#617118

    Green NPRL3 in Fetal anomalies


    Version 1.482

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3- MIM#617118

    Green NPRL3 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.15

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • GREP
    • Expert Review Green
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3, 617118

    Green NPRL3 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Australian Genomics Health Alliance Brain Malformations Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3 (MIM#617118)

    Green NPRL3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3- MIM#617118

    Green NPRL3 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • GREP
    Phenotypes
    • Epilepsy, familial focal, with variable foci 3, 617118